Canonical Allele Identifier: CA339005722

Gene: GALE

Linked Data

• dbSNP Id: rs752384408
• gnomAD v4: 1-23796184-C-T
• MyVariant Identifiers: chr1:g.24122674C>T (hg19) ; chr1:g.23796184C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796184C>T , CM000663.2:g.23796184C>T	GRCh38
NC_000001.10:g.24122674C>T , CM000663.1:g.24122674C>T	GRCh37
NC_000001.9:g.23995261C>T	NCBI36
NG_007068.1:g.9621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.955G>A MANE Select	ENSP00000483375.1:p.Gly319Arg
ENST00000374497.7:c.955G>A	ENSP00000363621.3:p.Gly319Arg
ENST00000429356.5:c.685G>A	ENSP00000398585.1:p.Gly229Arg
ENST00000456977.5:c.235G>A	ENSP00000397045.1:p.Gly79Arg
ENST00000459934.5:n.1183G>A
ENST00000469556.1:n.702G>A
ENST00000481736.5:n.1359G>A
ENST00000617979.4:c.955G>A	ENSP00000483375.1:p.Gly319Arg
NM_000403.3:c.955G>A	NP_000394.2:p.Gly319Arg
NM_001008216.1:c.955G>A	NP_001008217.1:p.Gly319Arg
NM_001127621.1:c.955G>A	NP_001121093.1:p.Gly319Arg
NM_001008216.2:c.955G>A MANE Select	NP_001008217.1:p.Gly319Arg
NM_000403.4:c.955G>A	NP_000394.2:p.Gly319Arg
NM_001127621.2:c.955G>A	NP_001121093.1:p.Gly319Arg